Over the summer we finally got to meet with Sadie's new neurologist/mito Dr. I really liked her. She listened to Sadie's whole story and asked a bazillion questions. She looked through ALL of her records with me so she could fully understand everything that Sadie has already gone through and everything that has been found so far, she looked at her MRI and listened to all the questions that I still have lingering in my mind. At the end of the appointment this is what she had to say... she is 98% sure that Sadie has a mitochondrial disease. Her lab work and her clinical presentation makes her believe this. Finally! Someone who is educated in mito disease, and doesn't second guess themselves and has enough confidence to say "yes, I truly believe that this is what she has". What a relief, but it was also disappointing. Mito is not a pretty disease, it is an extremly ugly, incurable disease. There was a part of me that was hoping that she would say "no, I think it is her brain malformation that has caused all this and she does not have a mito disease". What she is not sure of is what kind of mito disease it is or which came first, the mito disease or all the other issues. The next part that she said SHOCKED me. After looking at her MRI she is not completely convinced that she has pontocerebellar hypoplasia (PCH) or pontine tegmental cap dysplasia (PTCD). WHAT?! Is this woman on crack? Maybe I shouldn't believe her about the mito disease! Just kidding, but as I picked my jaw up off the floor, she continued to tell me that Sadie's MRI is kind of crappy. Sadie was only 3 days old and she had moved multiple times during the test. So the images were blurry and not very well defined lines of her brain. She said yes, it was obvious that there was malformations, but she's not sure if she agrees with the diagnosis.
Ok, so where do we go from here? These were all of her suggestions... 1. To get a new MRI of her brain while she is sedated so there is no movement and we will have clear lines and images. 2. To get an MRS (Magnetic Resonance Spectroscopy is used for measuring biochemical changes in the brain. You can read more about it here if you want). 3. An exome sequencing test performed on her blood and 4. To add more vitamins to her mito cocktail.
Like I said earlier, it was this summer that we met with this Dr. To date we already accomplished number 3 and 4. The results for number 3 should be back no later then Christmas time. And today we are accomplishing number 1 and 2. As I am sitting her typing, Sadie is under general anesthesia having her MRI/MRS done. They are also doing another BAER (hearing) test while she is asleep (not really sure why we are doing another hearing test, I guess to make sure she is still deaf *whatever!*). I should get the hearing test results today (who knows, maybe she had a miracle and she can now hear, stranger things have happened). I'm not sure when I will get the MRI results. I know my pediatrician will have the results in a week or so, but not sure she will give them to me. We don't see the neurologist until January. Not sure if she will give me the results over the phone. I'm not even sure when she will even get the results. She is part of a different medical group and associated with a completely different hospital, so who knows when she will receive a copy of the CD and the results. Hopefully in the next couple of weeks we will hear something from someone.
***So I did get the hearing test results and can you believe they told me she is still deaf? Crazy, huh?! Lol The only thing they did tell me that is "newish" is that she has fluid build up in her middle ear in both ears. The left ear is not that big of a surprise because during the summer she had to have the tube removed because is was clogged and had granulation tissue growing around it. It was just a matter of time before it started to bleed like her other ear did earlier in the year. We had been watching it to see if we needed to put another tube in. Apparently, she needs another tube in that ear. Her right ear, however, still has it's tube and we have had no issues since the replacement of that tube. So I'm a little surprised that that ear showed fluid. I suppose we shall just wait and see what her ENT has to say and see if we will be replacing those tubes.
***Sadie was not happy waking up from anesthesia this time. She was arching and screaming her kind of scream. She was so uncomfortable. She finally calmed down after about an hour. We came home and she just kept fussing, moaning, and wanting to sleep but couldn't get comfortable. It has been a long afternoon and evening so far. Hopefully, she sleeps well tonight.
***The Anesthesiologist also told me something new. He told me that Sadie's tonsils were pretty big and he had a hard time putting the tube down her throat and if I see blood in her mouth, that's why. I asked her ENT last time I saw him if he could look at her tonsils because she snores so loud sometimes. He barely looked in her mouth and stated they were not an issue and are not causing her apnea issues or her strider sounds. Plus, it is rare to have issues with tonsils and adenoids this young. I said "ok, if you say so". The sleep study confirmed that is was central apnea, so I didn't argue. But I have always (since she was a baby baby) thought in the back of my mind that she had throat or tonsil and adenoid issues. I guess I will be talking soon to her ENT and see what she he has to say.
Ok, so where do we go from here? These were all of her suggestions... 1. To get a new MRI of her brain while she is sedated so there is no movement and we will have clear lines and images. 2. To get an MRS (Magnetic Resonance Spectroscopy is used for measuring biochemical changes in the brain. You can read more about it here if you want). 3. An exome sequencing test performed on her blood and 4. To add more vitamins to her mito cocktail.
Like I said earlier, it was this summer that we met with this Dr. To date we already accomplished number 3 and 4. The results for number 3 should be back no later then Christmas time. And today we are accomplishing number 1 and 2. As I am sitting her typing, Sadie is under general anesthesia having her MRI/MRS done. They are also doing another BAER (hearing) test while she is asleep (not really sure why we are doing another hearing test, I guess to make sure she is still deaf *whatever!*). I should get the hearing test results today (who knows, maybe she had a miracle and she can now hear, stranger things have happened). I'm not sure when I will get the MRI results. I know my pediatrician will have the results in a week or so, but not sure she will give them to me. We don't see the neurologist until January. Not sure if she will give me the results over the phone. I'm not even sure when she will even get the results. She is part of a different medical group and associated with a completely different hospital, so who knows when she will receive a copy of the CD and the results. Hopefully in the next couple of weeks we will hear something from someone.
***So I did get the hearing test results and can you believe they told me she is still deaf? Crazy, huh?! Lol The only thing they did tell me that is "newish" is that she has fluid build up in her middle ear in both ears. The left ear is not that big of a surprise because during the summer she had to have the tube removed because is was clogged and had granulation tissue growing around it. It was just a matter of time before it started to bleed like her other ear did earlier in the year. We had been watching it to see if we needed to put another tube in. Apparently, she needs another tube in that ear. Her right ear, however, still has it's tube and we have had no issues since the replacement of that tube. So I'm a little surprised that that ear showed fluid. I suppose we shall just wait and see what her ENT has to say and see if we will be replacing those tubes.
***Sadie was not happy waking up from anesthesia this time. She was arching and screaming her kind of scream. She was so uncomfortable. She finally calmed down after about an hour. We came home and she just kept fussing, moaning, and wanting to sleep but couldn't get comfortable. It has been a long afternoon and evening so far. Hopefully, she sleeps well tonight.
***The Anesthesiologist also told me something new. He told me that Sadie's tonsils were pretty big and he had a hard time putting the tube down her throat and if I see blood in her mouth, that's why. I asked her ENT last time I saw him if he could look at her tonsils because she snores so loud sometimes. He barely looked in her mouth and stated they were not an issue and are not causing her apnea issues or her strider sounds. Plus, it is rare to have issues with tonsils and adenoids this young. I said "ok, if you say so". The sleep study confirmed that is was central apnea, so I didn't argue. But I have always (since she was a baby baby) thought in the back of my mind that she had throat or tonsil and adenoid issues. I guess I will be talking soon to her ENT and see what she he has to say.
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